Lysinuric Protein Intolerance

What is lysinuric protein intolerance?

Lysinuric protein intolerance is a condition that prevents the body from breaking down certain types of protein found in food. When these proteins build up in the the body, they can cause damage to the lungs, liver, spleen, kidneys and other important organs. Other symptoms, such as short height and intellectual disability, can also occur because the body is not able to properly use these proteins that are vital for growth and development. A larger than normal liver or spleen is often an early sign of lysinuric protein intolerance, usually appearing when the baby starts eating solid foods rich in protein.

How common is lysinuric protein intolerance?

About 1 in 50,000 babies is born with lysinuric protein intolerance in the United States each year.

What can be done for lysinuric protein intolerance?

Identifying this condition early (soon after birth) may lead to reduced symptoms and an improved quality of life. Diet changes, as well as taking daily medication to help clear certain toxins from the body, can manage the symptoms and help to prevent damage caused by lysinuric protein intolerance.

How is lysinuric protein intolerance inherited?

Lysinuric protein intolerance is caused by changes in the SLC7A7 gene. It is a recessive inherited condition, which means that a person must inherit two altered copies of the SLC7A7 gene, one from each parent, in order to have the disease. People who have only one copy of the altered SLC7A71 gene are called carriers, and are not expected to have symptoms of the condition. If a baby is identified as a carrier for lysinuric protein intolerance through Eli screening, genetic counseling and additional testing in the parents is recommended.


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